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    Pcyt2 phosphate cytidylyltransferase 2, ethanolamine [ Mus musculus (house mouse) ]

    Gene ID: 68671, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pcyt2provided by MGI
    Official Full Name
    phosphate cytidylyltransferase 2, ethanolamineprovided by MGI
    Primary source
    MGI:MGI:1915921
    See related
    Ensembl:ENSMUSG00000025137 AllianceGenome:MGI:1915921
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ET; 1110033E03Rik
    Summary
    Enables ethanolamine-phosphate cytidylyltransferase activity. Involved in phosphatidylethanolamine biosynthetic process. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia. Orthologous to human PCYT2 (phosphate cytidylyltransferase 2, ethanolamine). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver adult (RPKM 301.0), duodenum adult (RPKM 190.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 E2; 11 84.33 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120500888..120508784, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120610062..120617947, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene Aly/REF export factor Neighboring gene STARR-positive B cell enhancer ABC_E1854 Neighboring gene anaphase promoting complex subunit 11 Neighboring gene neuropeptide B Neighboring gene STARR-positive B cell enhancer ABC_E7114 Neighboring gene sirtuin 7 Neighboring gene microRNA 6936 Neighboring gene STARR-positive B cell enhancer ABC_E7115 Neighboring gene v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian) Neighboring gene predicted gene, 17586

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. Cikes D, et al. Nat Metab, 2023 Mar. PMID 36941451
    2. Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine. Grapentine S, et al. Sci Rep, 2022 Jan 20. PMID 35058529, Free PMC Article
    3. Male-Specific Cardiac Dysfunction in CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)-Deficient Mice. Basu P, et al. Mol Cell Biol, 2015 Aug. PMID 25986609, Free PMC Article
    4. The CDP-Ethanolamine Pathway Regulates Skeletal Muscle Diacylglycerol Content and Mitochondrial Biogenesis without Altering Insulin Sensitivity. Selathurai A, et al. Cell Metab, 2015 May 5. PMID 25955207
    5. A novel murine CTP:phosphoethanolamine cytidylyltransferase splice variant is a post-translational repressor and an indicator that both cytidylyltransferase domains are required for activity. Pavlovic Z, et al. Gene, 2014 Jun 10. PMID 24703999

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
      Title: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
    2. p75NTR enhances cognitive dysfunction in a mouse Alzheimer's disease model by inhibiting microRNA-210-3p-mediated PCYT2 through activation of NF-kappaB.
      Title: p75NTR enhances cognitive dysfunction in a mouse Alzheimer's disease model by inhibiting microRNA-210-3p-mediated PCYT2 through activation of NF-κB.
    3. Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine.
      Title: Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine.
    4. we conclude that NF-Y and YY1 are important for the basal transcription of Pcyt2 and that NF-Y is involved in the inhibitory effects of 25-HC on Pcyt2 transcription.
      Title: Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1.
    5. The data identify Pcyt2 and membrane Phosphatidylethanolamine biogenesis as important determinants of gender-specific differences in cardiac lipids and heart function.
      Title: Male-Specific Cardiac Dysfunction in CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)-Deficient Mice.
    6. The naturally occurring splice variant Pcyt2gamma has a function to restrain the enzyme activity through the formation of unproductive enzyme complexes.
      Title: A novel murine CTP:phosphoethanolamine cytidylyltransferase splice variant is a post-translational repressor and an indicator that both cytidylyltransferase domains are required for activity.
    7. differences in phosphorylation between Pcyt2 isoforms
      Title: Isoform-specific and protein kinase C-mediated regulation of CTP:phosphoethanolamine cytidylyltransferase phosphorylation.
    8. hypertriglyceridemia that accompanies Pcyt2 deficiency is the result of multiple metabolic adaptations
      Title: Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice.
    9. data unambiguously establish that the TAG accumulation present in Pcyt2-deficient hepatocytes is a direct consequence of Pcyt2 gene deficiency and reduced functioning of the de novo Kennedy pathway
      Title: Complementation of the metabolic defect in CTP:phosphoethanolamine cytidylyltransferase (Pcyt2)-deficient primary hepatocytes.
    10. PE phospholipids, Pcyt2 deficiency generates compensatory changes in triglyceride and energy substrate metabolism, resulting in a progressive development of liver steatosis, hypertriglyceridemia, obesity, and insulin resistance
      Title: The development of a metabolic disease phenotype in CTP:phosphoethanolamine cytidylyltransferase-deficient mice.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ethanolamine-phosphate cytidylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ethanolamine-phosphate cytidylyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ethanolamine-phosphate cytidylyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylethanolamine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phospholipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ethanolamine-phosphate cytidylyltransferase
    Names
    CTP:phosphoethanolamine cytidylyltransferase
    phosphorylethanolamine transferase
    NP_001334544.1
    NP_001349930.1
    NP_077191.2
    XP_006534132.1
    XP_006534134.1
    XP_036012825.1
    XP_036012826.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001347615.2 → NP_001334544.1  ethanolamine-phosphate cytidylyltransferase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL663030
      Consensus CDS
      CCDS83946.1
      UniProtKB/TrEMBL
      A2ABY3, Q3TLU0
      Related
      ENSMUSP00000101794.4, ENSMUST00000106188.4

    2. NM_001363001.1 → NP_001349930.1  ethanolamine-phosphate cytidylyltransferase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK144544, AL663030
      UniProtKB/TrEMBL
      Q540F5
      Conserved Domains (1) summary
      cl28626
      Location:15 → 345
      PLN02406; ethanolamine-phosphate cytidylyltransferase

    3. NM_024229.3 → NP_077191.2  ethanolamine-phosphate cytidylyltransferase isoform 1

      See identical proteins and their annotated locations for NP_077191.2

      Status: VALIDATED

      Source sequence(s)
      AK140458, AL663030
      Consensus CDS
      CCDS25747.1
      UniProtKB/Swiss-Prot
      Q922E4, Q99J50
      UniProtKB/TrEMBL
      Q3USD5, Q540F5
      Related
      ENSMUSP00000026129.10, ENSMUST00000026129.16
      Conserved Domains (3) summary
      PTZ00308
      Location:15 → 390
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
      cd02173
      Location:230 → 382
      ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
      cd02174
      Location:21 → 163
      CCT; CTP:phosphocholine cytidylyltransferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      120500888..120508784 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156933.1 → XP_036012826.1  ethanolamine-phosphate cytidylyltransferase isoform X4

      UniProtKB/TrEMBL
      Q3TLU0
      Conserved Domains (1) summary
      PTZ00308
      Location:15 → 318
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    2. XM_036156932.1 → XP_036012825.1  ethanolamine-phosphate cytidylyltransferase isoform X3

      UniProtKB/TrEMBL
      Q540F5
      Conserved Domains (1) summary
      PTZ00308
      Location:15 → 336
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    3. XM_006534071.3 → XP_006534134.1  ethanolamine-phosphate cytidylyltransferase isoform X2

      UniProtKB/TrEMBL
      Q3TLU0
      Conserved Domains (1) summary
      PTZ00308
      Location:15 → 371
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    4. XM_006534069.3 → XP_006534132.1  ethanolamine-phosphate cytidylyltransferase isoform X1

      UniProtKB/TrEMBL
      Q540F5
      Conserved Domains (1) summary
      PTZ00308
      Location:15 → 389
      PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

    RNA

    1. XR_001780048.2 RNA Sequence

    2. XR_004937013.1 RNA Sequence

    3. XR_003949495.2 RNA Sequence

    4. XR_879733.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q922E4.1 GenPept UniProtKB/Swiss-Prot:Q922E4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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